{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T03:25:07Z","timestamp":1787109907642,"version":"build-2736575974"},"reference-count":10,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":4858,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Anales de Pediatr\u00eda"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.anpedi.2012.09.006","type":"journal-article","created":{"date-parts":[[2012,10,22]],"date-time":"2012-10-22T19:16:27Z","timestamp":1350933387000},"page":"339-340","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Albinismo oculocut\u00e1neo 1B asociado a una nueva mutaci\u00f3n en el gen TYR"],"prefix":"10.1016","volume":"78","author":[{"given":"P.","family":"Vidal-R\u00edos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Fern\u00e1ndez-Seara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Cort\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hurtado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Couce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.anpedi.2012.09.006_bib0005","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gronskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0010","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1038\/jid.2008.109","article-title":"Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type","volume":"128","author":"Hutton","year":"2008","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0015","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1007\/s00439-003-0998-1","article-title":"Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype","volume":"113","author":"King","year":"2003","journal-title":"Hum Genet"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0020","first-page":"19","article-title":"Non-random distribution of missense mutations within the human tyrosinase gene in type i (tyrosinase-related) oculocutaneous albinism","volume":"8","author":"King","year":"1991","journal-title":"Mol Biol Med"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0025","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1002\/ajmg.1320430523","article-title":"Tyrosinase gene mutations in type i (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions","volume":"43","author":"Tripathi","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0030","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/jid.2009.339","article-title":"A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism","volume":"130","author":"Wei","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0035","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/s004399900104","article-title":"Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population","volume":"105","author":"Passmore","year":"1999","journal-title":"Hum Genet"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0040","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/humu.9248","article-title":"Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism","volume":"23","author":"Opitz","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0045","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1002\/ajmg.a.32539","article-title":"A new hypothesis of OCA1B","volume":"146A","author":"Chiang","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.anpedi.2012.09.006_bib0050","series-title":"Management of Genetic Syndromes","first-page":"53","article-title":"Albinism: ocular and oculocutaneous albinism and Hermansky-Pudlak Syndrome","author":"King","year":"2010"}],"container-title":["Anales de Pediatr\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403312003852?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403312003852?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T02:34:50Z","timestamp":1787106890000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1695403312003852"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S1695403312003852"],"URL":"https:\/\/doi.org\/10.1016\/j.anpedi.2012.09.006","relation":{},"ISSN":["1695-4033"],"issn-type":[{"value":"1695-4033","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Albinismo oculocut\u00e1neo 1B asociado a una nueva mutaci\u00f3n en el gen TYR","name":"articletitle","label":"Article Title"},{"value":"Anales de Pediatr\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anpedi.2012.09.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda. Published by Elsevier Espa\u00f1a, S.L. All rights reserved.","name":"copyright","label":"Copyright"}]}}